Property Summary

NCBI Gene PubMed Count 144
Grant Count 51
R01 Count 32
Funding $3,914,290.69
PubMed Score 208.63
PubTator Score 421.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
astrocytoma 1.600 0.004
ovarian cancer -1.300 0.000

MLP Assay (3)

AID Type Active / Inconclusive / Inactive Description
588378 confirmatory 73 / 251 / 956 qHTS for Inhibitors of ATXN expression: Validation
588380 summary 0 / 0 / 0 qHTS for Inhibitors of ATXN expression: Summary
651635 confirmatory 3833 / 45019 / 345643 qHTS for Inhibitors of ATXN expression

Gene RIF (104)

PMID Text
26752265 A meta-analysis of the top SNPs identified three new associated loci in primary open angle glaucoma--TXNRD2, ATXN2, and FOXC1
26663046 Data suggest that the spinocerebellar ataxia 2 protein (ATXN2, SCA2) CAG/CAA repeat expansion may play an important role in the phenotypic variability of Parkinson's disease.
26599997 Selective loss of Purkinje cells in the cerebellar vermis of amyotrophic lateral sclerosis cases with intermediate repeat expansions in the ATXN2 gene.
26208502 ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.(
25790475 FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated
25630585 This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype.
25527265 This study demonistrated that ATXN2 polyQ intermediate-length repeat is a modifier of ALS survival in Italian population.
25457026 ATXN2 intermediate-length polyglutamine expansions greater than 24 and 27 repeats were associated with sporadic ALS.
25382069 The data of this study showed that a total of 64.3% of familial and 27.8% of sporadic subjects carried potentially pathogenic novel or rare coding variants identified by sequencing or an expanded repeat in C9ORF72 or ATXN2.
25285812 this meta-analysis calculates association between ATXN2 CAG repeat alleles and increased risk of ALS across multiple ethnic groups.
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AA Sequence

MRSAAAAPRSPAVATESRRFAAARWPGWRSLQRPARRSGRGGGGAAPGPYPSAAPPPPGPGPPPSRQSSP      1 - 70
PSASDCFGSNGNGGGAFRPGSRRLLGLGGPPRPFVVLLLPLASPGAPPAAPTRASPLGARASPPRSGVSL     71 - 140
ARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQQQQQQQQQPPPAAANVRKPGGSGLLASPAA    141 - 210
APSPSSSSVSSSSATAPSSVVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKC    211 - 280
EVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKR    281 - 350
DAFTDSAISAKVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLS    351 - 420
SYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRE    421 - 490
NKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPS    491 - 560
SRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRH    561 - 630
PRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGN    631 - 700
TPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNE    701 - 770
TSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRLQPSSTSESMDQLLNKNREGEKSRDLIKDKIEPSA    771 - 840
KDSFIENSSSNCTSGSSKPNSPSISPSILSNTEHKRGPEVTSQGVQTSSPACKQEKDDKEEKKDAAEQVR    841 - 910
KSTLNPNAKEFNPRSFSQPKPSTTPTSPRPQAQPSPSMVGHQQPTPVYTQPVCFAPNMMYPVPVSPGVQP    911 - 980
LYPIPMTPMPVNQAKTYRAVPNMPQQRQDQHHQSAMMHPASAAGPPIAATPPAYSTQYVAYSPQQFPNQP    981 - 1050
LVQHVPHYQSQHPHVYSPVIQGNARMMAPPTHAQPGLVSSSATQYGAHEQTHAMYACPKLPYNKETSPSF   1051 - 1120
YFAISTGSLAQQYAHPNATLHPHTPHPQPSATPTGQQQSQHGGSHPAPSPVQHHQHQAAQALHLASPQQQ   1121 - 1190
SAIYHAGLAPTPPSMTPASNTQSPQNSFPAAQQTVFTIHPSHVQPAYTNPPHMAHVPQAHVQSGMVPSHP   1191 - 1260
TAHAPMMLMTTQPPGGPQAALAQSALQPIPVSTTAHFPYMTHPSVQAHHQQQL                    1261 - 1313
//

Text Mined References (155)

PMID Year Title
27452601 2016 ATXN2 polymorphism modulates age at onset in Machado-Joseph disease.
27245636 2016 The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.
26752265 2016 Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.
26663046 2015 [Genetic and clinical analysis in a Parkinson's disease family caused by expansion of SCA2].
26599997 2016 Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions.
26208502 2015 ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.
26086378 2015 Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25790475 2015 Both ubiquitin ligases FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated.
25630585 2015 Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.
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